Daughter has PCD- Primary Ciliary Dyskinesia

J

Janae Warren

New member
I recently posted a thread about my 7 year old daughter. She has symptoms of CF but very low sweat test results. One of you nice people posted about PCD- and that is exactly what the Pulmo Dr thinks she has. Everything that is written about PCD relates it to CF and says the treatment is identical and problems are similar- just caused by different disease. No wonder it was so confusing!

She's have CT of lungs next week, along with bronchoscopy. We're starting the acapella device today. Saline breathing treatments. Continued treatment for asthma- although at the moment the immunologist and pulmonologist think she may not even have asthma.

The diagnosis today was preliminary. There is still some question as to her immunity because she's not showing immunity to certain imunizations that should be responsive. So there could be some underlying immunodeficiency going on in addition to the possible PCD.

They will do genetic testing on her in December. And interestingly, some of the faulty genes for PCD are the same as for CF!

I'm going back and forth between being excited at getting a possible diagnosis finally and crying because my baby really is sick. I kept secretly hoping the doctor would tell me she was fine and I was just overly worried. I feel vindicated that my gut was right- and devestated to know she's very sick and it will never be gone.

I really appreciate this forum and those who've posted.
 
M

Melissa75

Administrator
I'm so sorry - yet so glad you have some answers. Getting the right treatment and routine of care going at a young age is such a benefit!

There are several of us on cysticfibrosis.com who don't have CF, but have PCD or non-CF bronchiectasis because there is so much to learn from and be inspired by in this community. As your daughter gets older, she might benefit from reading these forums and getting to know people online who deal with airway clearance routines etc. If you haven't already, you might also check out the forums of Bronchiectasis-R-Us. There is at least one active poster there with PCD (both she and her sister).

((Hugs))
 
K

Kristan

New member
Hi,

I was just recently diagnosed with PCD at age 49. At age 7, I was in and out of the hospital with multiple bouts of pneumonia and had a negative (CF) sweat test. I was diagnosed with bronchiectasis as a result of an immune deficiency. Interestingly, it did seem like I outgrew some of the symptoms (thought immune system just needed to develop) during adolescence, but typical PCD has a "Cinderella period". I am truly sorry your daughter is having health issues, but I am so glad you will be empowered with information to help her.
This past summer I participated in PCD studies at UNC and gave all my genetic information for their data base. MY parents tried really hard to find out why I was getting sick and I hope all the new genetic information coming to light will help others! Best wishes for your daughter!!
 
M

mom2girls

Guest
Hi. I'm sorry you're going through all of this too. Your situation seems very similar to what we're dealing with with my 8 yr old daughter. Felt like i was reading our story. Very low sweat test, bronch showed much sticky mucus, CT clear. Allergies and asthma treatment but recent methacholine challenge showed maybe no asthma. Started acapella this fall. Just had blood draw today for PCD panel. Also waiting to see if she qualifies for PCD study. I will pursue CF if don't get diagnosis of PCD b/c I truly feel something isn't right and pulm said her case is too complex to be seen by nurse instead of dr while she's on maternity leave. No diagnosis yet. Poor girl is starting the "why me" bit. Why so many appts and tests and treatments. I know things could be much, much worse and I am so thankful they aren't but would love the testing to be behind us. DD asked if they'll be done with the tests by the time she's in 4th grade so it can be a really great year.
Keep us posted on your daughter please.
 
J

Janae Warren

New member
Kristan said:
Hi,

I was just recently diagnosed with PCD at age 49. At age 7, I was in and out of the hospital with multiple bouts of pneumonia and had a negative (CF) sweat test. I was diagnosed with bronchiectasis as a result of an immune deficiency. Interestingly, it did seem like I outgrew some of the symptoms (thought immune system just needed to develop) during adolescence, but typical PCD has a "Cinderella period". I am truly sorry your daughter is having health issues, but I am so glad you will be empowered with information to help her.
This past summer I participated in PCD studies at UNC and gave all my genetic information for their data base. MY parents tried really hard to find out why I was getting sick and I hope all the new genetic information coming to light will help others! Best wishes for your daughter!!
Click to expand...

Wow! I'm so happy you got diagnosed- Somehow having a name to call it feels liberating. Our daughter will be genetically tested next month. I'm really looking forward to hopefully knowing for sure what this is.

They did the nasal cilia test and bronchoscopy a few days ago. They're going to see what was "growing" in the mucus in her lungs.

Thank you for sharing your story! I'm really happy to tell you that although she has minor lung collapse she doesn't have bronchiectasis. One thing that strikes me is your experience of having both PCD and immunodeficiency. They are still torn as to which they think Laura has or if she has both. The pulmo dr says its very rare to have both tho she's showing signs of each.

Will let you know how things turn out!
 
J

Janae Warren

New member
Sounds like our girls are going thru the same thing. The acapella device has helped a lot! Along with salt water nebulizer treatments twice daily. I told the dr that these things are helping. The diagnosis is still up in the air. Just finished the bronchoscopy a few days ago. Haven't got results back yet. Go in on Dec 4th for follow up. They did the nasal brushing to check for PCD and that takes several weeks for results. The mucus that they removed from her lungs was sent for lab testing- to see what is growing in her lungs. I have this secret hope that its just a crazy weird bacteria or fungus that needs special treatment to get rid of instead of something that points to lifelong problems. Of course, that is just wishful thinking. In reality it is going to point to either PCD or immunodeficiency or both.

Our daughter is getting genetic testing the end of December. That will also be the testing for immunodeficiency to see if she has responded to the re-vaccinations. This summer she was showing no immunity to dyphtheria or pneumonia although being fully vaxed.

You know, as a mother with a mucusy child- it was just amazing to hear her cough the first couple of days after bronchoscpy! The dr had literally sucked out all the mucus and she sounded so NORMAL! By the 2nd day it was starting to build again.

xox
please let me know how your daughter progresses and how things are going!!! Sounds like we are in the same boat as to looking for answers.
 
A

Amurr

New member
My son was just diagnosed at age 7 with PCD. I have been searching for answers since he was born. He has been tested for CF by one physician, and other pediatricians claimed he had bad allergies. After researching, and discovering PCD, I had a heavy weight on my heart, before he was finally diagnosed - I think it was that motherly instinct slapping me in the face. I am so very thankful for an answer, and his fantastic Pulmonary doctor, but I understand your pain, Janae. Hopefully your daughter is doing well, and it is nice to find other PCD families.
 
You must log in or register to reply here.
Top